PCH2 Treatment Options
A causal therapy for PCH2 hasn’t been found so far. However, specific symptoms can be treated. Below you will find PCH2 treatment options for the most common symptoms of the disease.
The PCH2 treatment options and dosages listed here are based on data from the 2023 Natural History Study on PCH2. The list makes no claim to be exhaustive and represents neither a specific recommendation nor an endorsement of the drugs or PCH2 treatment options mentioned. It is a compilation of measures that have been tried in the past and is intended for informative purposes only. PCH2cure assumes no liability in this respect.
More detailed descriptions of the symptoms and PCH2 treatment options as well as a detailed summary of the results of the 2023 Natural History Study on PCH2 can be found in the information brochure.
PCH2 Treatment for:
- Motor Disorder
- Epilepsy
- Dystonic Attacks
- Gastro-Esophageal Reflux
- Constipation
- Meteorism
- Feeding Difficulties
- Respiratory Tract Infections / Apneas
- Thermoregulatory Disorder
- Sleep Disorders
- Restlessness
Motor Disorder
General Measures
- Physiotherapy to prevent muscle contracture and maintain muscle mobility
Medication
Overall, the motor disorder appears to be difficult to treat medically (50% of the study participants had tried medical therapy, only a third rated the motor disorder as partially treatable or well treatable).
| Substance | Natural History Study 2023 | |
|---|---|---|
| Baclofen (Lioresal®) | Number of children treated | 17 (discontinued in 6/17 cases) |
| Administration form | Orally or by tube | |
| Dosage (15 cases) | average 0.94 mg/kg BW/d (0.14-2.27 mg/kg BW/d) in 1-4 SD |
Other drugs that have been administered in the NHS 2023 for motor disorder:
- Dronabinol in 8 cases (discontinued in 1 case)
- Diazepam, phenobarbital and gabapentin in 5 cases each (discontinued in 0 cases each)
- Levodopa in 4 cases (discontinued in 2 cases)
- Levomepromazine in 3 cases (discontinued in 0 cases)
- Tizanidine and chloral hydrate in 3 cases each (discontinued in 1 case each)
Epilepsy
Long-term Medication
| Substance | Natural History Study 2023 | |
|---|---|---|
| Phenobarbital (Luminal©, Luminaletten®) | Number of children treated | 25 (discontinued in 5/25 cases) |
| Administration form | Orally / by tube | |
| Dosage (24 cases) | average 5.62 mg/kg/d (1-14.16 mg/kg/d) in 1-3 SD | |
| Monotherapy and multidrug therapy | 7x monotherapy, 13x multidrug therapy (levetiracetam most frequently used) | |
| Levetiracetam (Keppra®) | Number of children treated | 16 (discontinued in 5/16 cases) |
| Administration form | Orally / by tube | |
| Dosage (16 cases) | average 49.6 mg/kg/d (20-125 mg/kg/d) in 2-3 SD | |
| Monotherapy and multidrug therapy | 5x monotherapy, 11x multidrug therapy (phenobarbital most frequently used) | |
| Valproic acid (Ergenyl®, Orfiril®) | Number of children treated | 11 (discontinued in 4/11 cases) |
| Administration form | Orally / by tube | |
| Dosage (8 cases) | average 29.89 mg/kg/d (10.71-58.7 mg/kg/d) in 2-3 SD | |
| Monotherapy and multidrug therapy | Exclusively given as multidrug therapy (carbamazepine most frequently used) | |
| Topiramate (Topamax®) | Number of children treated | 10 (discontinued in 5/10 cases) |
| Administration form | Orally / by tube | |
| Dosage | No calculation possible due to incorrect data | |
| Monotherapy and multidrug therapy | Exclusively given as multidrug therapy (phenobarbital most frequently used) | |
| Gabapentin (Neurontin®) | Number of children treated | 7 (discontinued in 3/7 cases) |
| Administration form | Orally / by tube | |
| Dosage (7 cases) | average 40.76 mg/kg/d (13.1-60 mg/kg/d) in 2-3 SD | |
| Monotherapy and multidrug therapy | 1x monotherapy, 3x multidrug therapy (phenobarbital most frequently used) |
Administered in 5 cases or less:
- Clobazam (discontinued in 3/5 cases)
- Vigabatrin (discontinued in 4/5 cases)
- Carbamazepine (discontinued in 3/5 cases)
- Oxcarbazepine (discontinued in 5/5 cases)
- Clonazepam (discontinued in 3/4 cases)
- Lamotrigine (discontinued in 3/4 cases)
- Sultiame (discontinued in 2/2 cases)
P.R.N. Medication
- Midazolam
- Diazepam
- Clonazepam
Dystonic Attacks
General Measures
- pay attention to potential triggers and avoid them if possible
- natural sleep can sometimes end a dystonic attack
Medication
There is no known reliable medicinal treatment; therefore, the treatment of dystonic attacks requires special neuropediatric expertise and should be based on the general recommendations for the management of status dystonicus.
Gastro-Esophageal Reflux
General Measures
- avoid foods that increase stomach acid production
- upright position during and after eating and drinking
- if a gastrostomy tube exists: de-airing of the stomach via the G-tube
Medication
- early use of proton pump inhibitors (e.g. omeprazole) in a significantly increased dose (3-5 mg/kg BW/d, split into several doses daily)
Surgery
- fundoplication
Scientific Background (Natural History Study 2023)
- 43 of 48 children with symptomatic reflux were given proton pump inhibitors (mostly omeprazole) at a median dose of 3.1 mg/kg BW/d, split into 3 doses
- 34 out of 43 parents whose children were treated with a proton pump inhibitor stated that it was a “key medication” that resulted in a significant reduction of symptoms
- 5 out of 7 cases in which gastro-esophageal reflux ceased during the study were associated with undergoing fundoplication
Constipation
General Measures
- sufficient fluid intake, high-fiber diet
- look out for the addition “fiber” on tube feeding
- abdominal massages
- rectal stimulation to support the passing of stool
Medication
- Oral laxatives (Macrogol®) as long-term medication
- Rectal laxatives (Mikroklist/Mikrolax® or Lecicarbon®) as P.R.N. medication
Scientific Background (Natural History Study 2023)
- 22 of 53 children were given at least one oral laxative (mostly Macrogol, mostly as long-term medication)
- 28 of 53 children were given at least one rectal laxative (Microklist/Mikrolax and Lecicarbon in 12 cases each, mostly as P.R.N. medication)
- 8 children were given enema with 1:1 neutral oil / glycerol
- most children required support in the form of rectal stimulation to pass stool
- the treatability of constipation using the above-mentioned medication was reported by most parents as partially treatable or well treatable
Meteorism
General Measures
- consider food intolerances and initiate appropriate diagnosis if necessary
- regular laxative treatment
Medication
- Dimethicone (Sab SIMPLEX®) / simeticone (ESPUMISAN®)
- Carum carvi (Caraway seed extract suppositories)
Overall, medication often has little effect on meteorism.
Feeding Difficulties
General Measures
- educate parents about swallowing disorders and the risk of aspiration (including so-called silent aspiration which can go unnoticed)
- advise parents on eating routines, regular meals
- finely pureed food and thickened liquids facilitate swallowing in most cases
- keeping the child securely in place while eating can help to minimize problems caused by uncoordinated movements during feeding
- avoid highly acidic foods (see reflux)
- speech therapy to improve oral motor skills and swallowing
- if necessary, insertion of a feeding tube or PEG tube as the disease progresses
Respiratory Tract Infections / Apneas
Non-medical Treatment
- check vaccination status and consider additional vaccinations against Covid-19 and influenza
- (daily) inhalations
- physical therapy
- use of a cough assist if necessary
- suctioning / oxygen administration as needed
- in severe cases, non-invasive home ventilation (during sleep) or tracheostoma
Prophylaxis or Long-term Medication
- Normal saline (0.9% or 3%) by inhalation
- Budesonide by inhalation
- Ipratropium bromide by inhalation
P.R.N. Medication
- Salbutamol by inhalation
- Budesonide by inhalation
- Ipratropium bromide by inhalation
- Fluticasone by inhalation
- Xylometazoline nasally
- Prednisolone orally/by tube or rectally
Thermoregulatory Disorder
Educate parents with regard to:
- fever, fever progression, febrile seizures
- the use of common antipyretics (paracetamol and ibuprofen)
- central fever
- central hypothermia
Sleep Disorders
General Measures
- advice for parents on the subject of sleep routines
- provide optimal support for children with existing breathing problems (ventilation, inhalation, monitoring breathing during sleep)
- adjust position during the night if necessary
- lack of sleep has a strong impact on the health and psyche of caregivers address this openly with the family and point out possible support options
Medication
| Substance | Natural History Study 2023 | |
|---|---|---|
| Melatonin (Slenyto®) | Number of children treated | 21 (discontinued in 10/21 cases) |
| Administration form | Orally or by tube | |
| Dosage (14 cases) | average 0.34 mg/kg/d (0.06-0.57 mg/kg/d) in 1-2 SD | |
| Chloral hydrate | Number of children treated | 20 (discontinued in 3/20 cases) |
| Administration form | Orally, by tube or rectally | |
| Dosage (5 cases) | average 30.9 mg/kg/d (14.3-66.7 mg/kg/d) in 1-3 SD | |
| Levomepromazine (Neurocil®) | Number of children treated | 11 (discontinued in 1/11 cases) |
| Administration form | Orally or by tube | |
| Dosage (8 cases) | average 2 mg/kg/d (0.2-10.5 mg/kg/d) in 1-2 SD | |
| Other substances * – Phenobarbital – Promethazine – Diazepam – Gabapentin | administered in 6 cases for sleep disorders administered in 4 cases for sleep disorders administered in 3 cases for sleep disorders administered in 3 cases for sleep disorders |
* these substances are explained in more detail elsewhere, see chapter Epilepsy.
Restlessness
Medication
| Substance | Natural History Study 2023 | |
|---|---|---|
| Diazepam (Valium®) | Number of children treated | 21 (discontinued in 3 cases) |
| Administration form | Orally, by tube, rectally | |
| Dosage (13 cases) | P.R.N. medication: average 0.23 mg/kg BW/SD (0.04-0.55 mg/kg BW/SD) | |
| Dronabinol (synthetisches Tetrahydrocannabinol = THC) | Number of children treated | 9 (discontinued in 4 cases) |
| Administration form | orally or by tube | |
| Dosage (9 cases) | long-term medication: average 0.8 mg/kg BW/d (0.35-1.6 mg/kg/d) in 2-3 SD | |
| Lorazepam (Tavor®) | Number of children treated | 8 (discontinued in 4 cases) |
| Administration form | orally or by tube | |
| Dosage (7 cases) | P.R.N. medication: average 0.03 mg/kg BW/SD (0.02-0.05 mg/kg BW/SD) | |
| Promethazin (Atosil®) | Number of children treated | 7 (discontinued in 6 cases) |
| Administration form | orally | |
| Dosage | mostly as P.R.N. medication, lack of data for precise dosage | |
| Clonazepam (Rivotril®) | Number of children treated | 5 (discontinued in 4 cases) |
| Administration form | orally or by tube | |
| Dosage | mostly as long-term medication, lack of data for precise dosage | |
| Other substances: – Phenobarbital – Chloral hydrate – Midazolam – Levomepromazine – Gabapentin | Administered in 17 cases for restlessness Administered in 13 cases for restlessness Administered in 9 cases for restlessness Administered in 9 cases for restlessness Administered in 7 cases for restlessness |