CCDC 115-CDG – Coiled-Coil Domain Containing 115 Congenital Disorder of Glycosylation

Main goals of treatment

The goals are to (1) prevent avoidable harm (infections, dehydration, low blood sugar, bleeding), (2) support growth and brain development, (3) slow liver damage and treat complications, and (4) improve quality of life for the child and family. PMC+2Frontiers+2

All medicines and doses must be chosen by a clinician because CCDC115-CDG often includes liver disease, and liver disease can change how drugs are handled (and can increase side-effects). Frontiers+1

Non-pharmacological treatments (therapies and other supports)

1. Metabolic/genetic care team follow-up: Regular visits with genetics/metabolic and hepatology help catch complications early and update testing and plans. PMC+1

2. Nutrition plan (high-calorie when needed): Many children need extra calories and protein to grow; dietitians adjust feeds to improve weight and strength. NASPGHAN+1

3. Feeding therapy (swallow + oral motor): Speech/feeding therapists help reduce choking risk and improve safe intake by mouth when possible. Pediatrics+1

4. Tube feeding when oral intake fails: Nasogastric or gastrostomy feeding can improve growth when a child cannot meet needs by mouth; risks/benefits must be weighed in chronic liver disease. Pediatrics+1

5. Physical therapy: Builds strength, balance, and joint range, and helps prevent contractures when low tone or weakness is present. PMC+1

6. Occupational therapy: Improves daily skills (hand use, play, self-care) and supports adaptive tools for school and home. PMC+1

7. Speech/language therapy: Helps communication (speech or AAC devices) and supports learning and behavior. PMC+1

8. Developmental/early-intervention programs: Structured early support improves function and reduces long-term disability impact in many neurodevelopmental conditions. PMC+1

9. Liver complication monitoring: Routine labs and imaging help track cholestasis, fibrosis, and portal hypertension signs early. Frontiers+1

10. Bleeding-risk planning: If clotting factors are low, clinicians plan dental work/surgery carefully and monitor bruising/bleeding. Frontiers+1

11. Vaccination optimization: Vaccines help reduce infection burden; immune evaluation may change timing and which vaccines are safe. PMC+1

12. Infection-prevention habits: Hand hygiene, avoiding sick contacts during outbreaks, and early fever assessment are important if immune function is weak. primaryimmune.org+1

13. Sleep routine and behavioral supports: Better sleep improves learning, mood, and seizure threshold in many neurologic conditions. PMC+1

14. Safe exercise/play plan: Gentle activity supports muscle and bone health while avoiding exhaustion and dehydration (important in liver disease). NASPGHAN+1

15. Education plan (IEP/504 equivalent): School supports for learning, mobility, and communication improve participation and outcomes. PMC+1

16. Genetic counseling for family planning: Explains inheritance risk and testing options for parents and siblings. orpha.net+1

17. Regular hearing/vision checks: Multi-system genetic disorders can include sensory issues; early detection improves development. PMC+1

18. Dental care with liver-aware planning: Gum bleeding and procedures may need special planning if clotting is abnormal. Wiley Online Library+1

19. Mental health + caregiver support: Chronic rare disease care is stressful; structured support improves adherence and wellbeing. PMC+1

20. Emergency plan sheet: A written plan for fever, vomiting, bleeding, or seizure helps families and local hospitals act fast. PMC+1

Drug treatments

Important: CCDC115-CDG has no FDA-approved “disease-specific” drug. The drugs below are commonly used to treat complications (cholestasis, bleeding risk, infections, seizures, vomiting, etc.). Doses must be individualized by a clinician. PMC+2PubMed+2

1. Ursodiol (Actigall/URSO) — Class: bile acid. Time: taken with food, usually divided doses. Purpose: improves bile flow in cholestasis-type problems. Mechanism: changes bile composition and supports bile secretion. Key label dosing concept: adult PBC dosing is weight-based (example listed 13–15 mg/kg/day in divided doses); clinician adjusts. Side effects: diarrhea, stomach upset (varies). FDA Access Data+2FDA Access Data+2

2. Phytonadione (Vitamin K1; oral or injection depending on case) — Class: vitamin/coagulation support. Time: clinician-directed (often urgent if bleeding risk). Purpose: helps correct vitamin K deficiency and supports clotting factor activation. Mechanism: co-factor for clotting factor activation. Side effects: injection reactions; rare serious reactions reported with IV use in labels. FDA Access Data+2PMC+2

3. Rifaximin (Xifaxan) — Class: gut-targeted antibiotic. Time: scheduled dosing. Purpose: reduces gut bacteria that produce toxins (used in hepatic encephalopathy settings). Mechanism: inhibits bacterial RNA synthesis locally in gut. Side effects: nausea, swelling, fatigue reported; caution in severe hepatic impairment on label. FDA Access Data+1

4. Lactulose (Enulose; oral solution) — Class: osmotic laxative. Time: divided doses to achieve target bowel movements (clinician goal). Purpose: constipation and commonly used in hepatic encephalopathy care plans. Mechanism: draws water into colon; changes colonic pH and ammonia handling. Side effects: diarrhea, bloating, cramps, dehydration if overdone. FDA Access Data+2FDA Access Data+2

5. Spironolactone (Aldactone) — Class: potassium-sparing diuretic/aldosterone antagonist. Time: daily (varies). Purpose: ascites/edema management in liver disease. Mechanism: blocks aldosterone, reduces sodium/water retention. Side effects: high potassium, breast tenderness, menstrual changes. FDA Access Data+1

6. Furosemide (Lasix) — Class: loop diuretic. Time: clinician-set schedule. Purpose: edema/ascites control. Mechanism: increases salt and water excretion in kidney. Side effects: dehydration, low potassium/sodium, kidney stress—needs monitoring. FDA Access Data+1

7. Propranolol (Inderal/Inderal LA) — Class: beta-blocker. Time: daily or divided, clinician-directed. Purpose: sometimes used to lower portal pressure and reduce variceal bleeding risk in portal hypertension care (specialist decision). Mechanism: lowers heart output and splanchnic blood flow. Side effects: slow heart rate, low blood pressure, wheeze in asthma. FDA Access Data+1

8. Omeprazole (Prilosec) — Class: proton pump inhibitor. Time: taken before eating per label instructions. Purpose: reflux/ulcer protection when needed. Mechanism: lowers stomach acid production. Side effects: headache, diarrhea; longer use has risks (doctor monitors). FDA Access Data+1

9. Ondansetron (Zofran) — Class: anti-nausea (5-HT3 blocker). Time: as scheduled or as needed per plan. Purpose: vomiting control to prevent dehydration and poor intake. Mechanism: blocks serotonin signaling that triggers vomiting. Side effects: constipation, headache; QT risk warnings exist in labeling context. FDA Access Data+1

10. Amoxicillin/clavulanate (Augmentin) — Class: antibiotic (penicillin + beta-lactamase inhibitor). Time: often taken with food; course length depends on infection. Purpose: bacterial infections (sinus/ear/chest/skin, etc.)—doctor choice based on cultures. Mechanism: blocks bacterial cell wall; clavulanate protects amoxicillin. Side effects: diarrhea, rash; liver warnings exist in labeling. FDA Access Data+1

11. Ceftriaxone (IV) — Class: cephalosporin antibiotic. Time: IV, often once daily depending on infection. Purpose: serious bacterial infections (doctor/hospital use). Mechanism: blocks bacterial cell wall. Side effects: allergy, diarrhea; special cautions with calcium in IV lines appear in labels. FDA Access Data+1

12. Levetiracetam (Keppra) — Class: anti-seizure medicine. Time: usually twice daily; IV form can be infused per label. Purpose: seizure control if seizures occur. Mechanism: binds SV2A (modulates neurotransmitter release). Side effects: sleepiness, dizziness; behavioral/mood warnings appear in labels. FDA Access Data+1

13. Divalproex/Valproate (Depakote) — Class: anti-seizure/mood stabilizer. Time: scheduled daily dosing (formulation dependent). Purpose: seizure control in selected cases. Mechanism: increases inhibitory signaling and affects ion channels. Side effects: serious liver toxicity risk is a key warning; specialist selection is critical in liver disease. FDA Access Data+1

14. Diazepam rectal gel (for seizure rescue in some plans) — Class: benzodiazepine. Time: rescue use per emergency plan. Purpose: stop prolonged seizures. Mechanism: boosts GABA calming signals. Side effects: sleepiness, slowed breathing (needs strict medical plan). FDA Access Data+1

15. Phenobarbital (selected seizure plans) — Class: barbiturate anti-seizure. Time: scheduled dosing (clinician-directed). Purpose: seizure control in some patients. Mechanism: increases GABA-A activity. Side effects: sedation, learning effects, drug interactions. FDA Access Data+1

16. Hydrocortisone injection (Solu-Cortef) when adrenal crisis risk exists — Class: corticosteroid. Time: emergency or stress dosing only when indicated. Purpose: treat adrenal insufficiency/crisis (only if diagnosed). Mechanism: replaces cortisol and reduces shock/inflammation. Side effects: high sugar, infection risk, stomach irritation. Office of Dietary Supplements+1

17. Levothyroxine (Synthroid) — Class: thyroid hormone (T4). Time: daily. Purpose: treats hypothyroidism if present. Mechanism: replaces thyroid hormone to normalize metabolism and growth. Side effects: too-high dose can cause fast heart rate, anxiety, weight loss; label notes adrenal insufficiency must be corrected first. FDA Access Data+1

18. Human albumin infusion (selected hospital situations) — Class: plasma protein volume expander. Time: IV in monitored setting. Purpose: supports blood volume/oncotic pressure in some liver complications. Mechanism: pulls fluid into blood vessels. Side effects: fluid overload risk; allergy risk. FDA Access Data+1

19. Tranexamic acid (selected bleeding plans) — Class: antifibrinolytic. Time: short-term in bleeding risk situations (specialist). Purpose: reduce some bleeding by stabilizing clots. Mechanism: blocks plasminogen activation. Side effects: clot risk in certain patients; requires careful selection. FDA Access Data+1

20. Desmopressin (DDAVP; selected bleeding disorders) — Class: vasopressin analog. Time: short-term for procedures/bleeding in specific disorders. Purpose: can raise von Willebrand factor/factor VIII in responsive patients. Mechanism: triggers release of stored clotting proteins. Side effects: low sodium/water retention—must monitor. FDA Access Data+1

Dietary molecular supplements

1. Vitamin D — Supports bone and immune function; deficiency is common in chronic illness. Dose depends on blood level; too much can be harmful, so labs guide dosing. Office of Dietary Supplements+1

2. Vitamin A — Important for vision and immunity; can be low in cholestasis but toxic if overdosed, so use only under specialist monitoring. PMC+1

3. Vitamin E — Antioxidant that protects cell membranes; absorption can be low with poor bile flow; dosing should follow clinician plan. PMC+1

4. Vitamin K (oral form for maintenance) — Supports clotting; cholestasis can reduce absorption, so clinicians use labs and symptoms to guide long-term dosing. PMC+1

5. Omega-3 fatty acids (EPA/DHA) — May support heart and inflammation balance; can help overall nutrition when intake is poor, but product quality and dose matter. Office of Dietary Supplements+1

6. Zinc — Important for growth, wound healing, and immune function; too much can cause copper problems, so dosing should be careful. Office of Dietary Supplements+1

7. Selenium — Supports antioxidant enzymes and thyroid pathways; excess can be toxic, so avoid high dosing without labs. APIM+1

8. Calcium (with vitamin D plan) — Supports bones; diet + supplements may be needed when growth is poor; constipation risk exists. Office of Dietary Supplements+1

9. Iron (only if iron deficiency is proven) — Helps anemia and development; too much iron can be harmful, so lab confirmation is needed first. The Nutrition Source+1

10. Carnitine (L-carnitine; specialist-directed) — Sometimes used in metabolic care to support fatty-acid transport; benefit depends on the individual diagnosis and labs. PMC+1

Immunity booster / regenerative / stem-cell–related medicines

1. IVIG (immune globulin IV) — Used when antibody deficiency/recurrent infections are present. It provides pooled antibodies to help fight infections. Dosing is weight-based and scheduled (often every few weeks) under an immunologist. FDA Access Data+1

2. SCIG (subcutaneous immune globulin; when chosen) — Similar goal as IVIG but given under the skin in smaller, more frequent doses for some patients; clinician decides which route fits. primaryimmune.org+1

3. Filgrastim (G-CSF) — Can raise neutrophils in selected neutropenia settings and reduce infection risk; dosing and monitoring are specialist-controlled. Office of Dietary Supplements+1

4. Pegfilgrastim (long-acting G-CSF) — Longer-acting option used in specific contexts; not routine for every patient and requires specialist decision. FDA Access Data+1

5. Sargramostim (GM-CSF) — Another growth factor that can support certain white blood cell recovery pathways in selected cases (specialist use). FDA Access Data+1

6. Plerixafor (stem-cell mobilizer; transplant pathway drug) — Used to mobilize stem cells for collection in some transplant settings; this is not a “CDG cure,” but part of a stem-cell transplant process when indicated. FDA Access Data+1

A true “regenerative” option in immune diseases is hematopoietic stem cell transplantation (HSCT) for specific severe inborn errors of immunity; whether it applies to a CCDC115-CDG patient depends on immune testing and expert review. primaryimmune.org+2PubMed+2

Surgeries / procedures (what they are and why they are done)

1. Gastrostomy tube placement (G-tube) — Done when a child cannot eat enough safely; improves nutrition and growth, but requires careful planning if portal hypertension is present. Pediatrics+1

2. Central venous access (port/PICC) when needed — Used for frequent IV therapies (e.g., IVIG, antibiotics) when repeated access is difficult; risk includes infection and clot. primaryimmune.org+1

3. Endoscopy with variceal treatment (if portal hypertension/varices) — Done to check or treat varices that can bleed in advanced liver disease. Frontiers+1

4. Liver transplantation (selected severe liver failure cases) — Considered when liver disease is life-threatening and not controlled; CCDC115 deficiency has published cases including transplant. ScienceDirect+1

5. HSCT (bone marrow/stem cell transplant) for severe immune disease — A major procedure used for certain inborn immune disorders; only for carefully selected patients and centers. primaryimmune.org+1

Prevention and day-to-day risk reduction steps

1. Keep a “fever rule”: fever in an immune-weak child should be assessed quickly, because serious infections can move fast. primaryimmune.org+1

2. Handwashing + masking during outbreaks reduces respiratory infection exposure in vulnerable patients. primaryimmune.org+1

3. Avoid dehydration (especially with vomiting/diarrhea or diuretics) because it worsens weakness and can stress kidneys/liver. FDA Access Data+1

4. Medication review at every visit to avoid liver-unsafe or interacting drugs when liver function is reduced. Frontiers+1

5. Routine liver monitoring (labs/imaging) to catch portal hypertension and fibrosis progression early. Frontiers+1

6. Nutrition tracking (weight/height/arm measures) to act early before severe malnutrition happens. NASPGHAN+1

7. Bleeding-precaution planning before dental/surgery if clotting is abnormal. Wiley Online Library+1

8. Safe food and water practices to lower stomach infection risk (important with immune weakness). primaryimmune.org+1

9. Vaccines and immune plan (which vaccines, timing, and safety) individualized by immunology. primaryimmune.org+1

10. Emergency sheet + medicines list carried by caregivers to prevent delays and drug errors during emergencies. PMC+1

When to see a doctor (and when it’s urgent)

Go urgently / emergency for: trouble breathing, repeated vomiting with sleepiness, seizure that does not stop, black or bloody stool/vomit, new confusion, severe jaundice, or signs of dehydration (very low urine, very dry mouth, fainting). Frontiers+2Wiley Online Library+2

See the doctor soon for: poor weight gain, ongoing diarrhea, frequent infections, easy bruising, new swelling of belly/legs, or behavior/learning regression—these can signal worsening liver disease, malabsorption, or immune complications. Frontiers+2primaryimmune.org+2

What to eat and what to avoid

1. Eat enough calories (small frequent meals) if appetite is poor; growth is a key treatment target. NASPGHAN+1

2. Adequate protein unless the liver team limits it for a specific complication; protein supports growth and healing. NASPGHAN+1

3. Use dietitian-approved fats; in cholestasis, absorption is altered and fat-soluble vitamins may be low. PMC+1

4. Fruits and vegetables daily (as tolerated) for fiber and micronutrients. NASPGHAN

5. Safe, clean water; treat vomiting/diarrhea early to avoid dehydration. Frontiers+1

6. Limit high-salt foods if swelling/ascites is present (doctor/dietitian sets the exact plan). Frontiers+1

7. Avoid alcohol (for teens/adults) and avoid unnecessary herbal “liver cleanses,” because liver injury risk is real. Frontiers+1

8. Be careful with high-dose vitamin A, D, E, K without labs—fat-soluble vitamins can build up and cause toxicity. PMC+1

9. Avoid raw/undercooked foods if immune problems exist (foodborne infections). primaryimmune.org+1

10. Avoid skipping meals if the child is small/fragile; steady intake helps energy and growth. NASPGHAN+1

FAQs

1. Is CCDC115-CDG curable? Not currently; care is supportive and complication-focused, and some severe cases may need transplantation options. orpha.net+2ScienceDirect+2

2. Why is it called a “glycosylation disorder”? Because the body has trouble attaching/processing sugar chains on proteins, which affects how proteins work. ScienceDirect+1

3. Why is liver disease common? Many liver proteins rely on proper glycosylation; CDG can cause cholestasis and fibrosis in the liver. Frontiers+1

4. Can it look like Wilson disease or other liver diseases? Yes—published reports note diagnostic confusion with other metabolic liver problems. PubMed+1

5. What tests confirm it? Genetic testing of CCDC115 plus glycosylation studies (like transferrin glycoforms) guided by specialists. ScienceDirect+1

6. What doctors are usually involved? Genetics/metabolic, hepatology, neurology, immunology, nutrition, and therapies (PT/OT/speech). PMC+1

7. Are there FDA-approved drugs specifically for CCDC115-CDG? No; drugs are used for symptoms (cholestasis, seizures, infections, bleeding risk). PMC+1

8. Why are vitamins A/D/E/K often discussed? Cholestasis can reduce absorption of fat-soluble vitamins; replacement must be monitored to avoid toxicity. PMC+1

9. Can a child need a feeding tube? Yes, when oral intake is not enough or unsafe; it can improve growth and stability. Pediatrics+1

10. Can liver transplant help? In selected severe liver failure, transplant has been reported in CCDC115 deficiency and in CDG-related liver disease contexts. ScienceDirect+2PMC+2

11. Does transplant fix everything? It may fix liver function, but CDG is systemic, so other issues can persist and need ongoing care. PMC+1

12. What about immune globulin (IVIG/SCIG)? It can reduce infections when antibody deficiency exists; it must be prescribed and monitored by immunology. FDA Access Data+1

13. Are seizures expected in every patient? Not necessarily; CDG symptoms vary widely, so neurologic evaluation is individualized. PMC+1

14. Can siblings be affected? It depends on inheritance in the family; genetic counseling helps clarify risks and testing options. orpha.net+1

15. What is the most important daily action for families? Keep nutrition and hydration stable, act early for fever/infection signs, and keep regular follow-ups with the multi-specialty team. PMC+2primaryimmune.org+2