View clinical trials related to Spasms, Infantile.
Filter by:Compassionate use of Stiripentol in Dravet Syndrome. This is a treatment protocol, not a research study, therefore children will only be monitored on a clinical basis for seizure improvement predominantly by parent and caregiver report.
Infantile spasms constitute a unique age specific epilepsy syndrome of infancy, characterized by epileptic spasms often accompanied by neurodevelopmental regression and an EEG finding of hypsarrhythmia. When all 3 components are present, the eponym "West syndrome" is commonly used. West syndrome is a catastrophic epileptic encephalopathy. It does not respond well to standard anti-epileptic drugs. Hormonal therapy is the mainstay in the treatment of infantile spasms. This includes adreno-cortico trophic hormone (ACTH) and oral steroids. Variable dose of prednisolone used in the treatment. Oral prednisolone used in usual dose (2mg/kg) has been shown to be less effective as compared to ACTH. High dose prednisolone (4mg/kg) has been used in the treatment of infantile spasms, which has been shown to be as effective as ACTH. Pyridoxine has been used as first line treatment in Japan, however there is paucity of data on the efficacy of combination of pyridoxine with hormonal therapy. There are no studies comparing add on pyridoxine with high prednisolone versus high dose prednisolone alone in the treatment of infantile spasms. Therefore the study has been planned to see whether the addition of pyridoxine with high dose prednisolone in the treatment of infantile spasms improves the efficacy in terms of spasm cessation.
Infantile spasms (IIS), a characteristic epilepsy syndrome of infancy with often catastrophic developmental consequences, is known in some patients to have many different genetic, metabolic and structural etiologies. However, for most patients IIS is the only presenting clinical feature and the specific cause is unknown. Only two FDA approved pharmacologic treatments for IIS exist, Adrenocorticotropic hormone (ACTH) and vigabatrin. While vigabatrin may be the treatment of choice for Tuberous Sclerosis as a cause for IS, ACTH is the treatment of choice for all others. Unfortunately, a substantial number of patients may still not respond to ACTH and there is no a priori way that suggests which patients may be responders. This has led to the following key questions: Can novel genetic analyses determine known genetic causes of IS with greater efficiency (more timely and cost-effective)? Can novel genetic analyses determine previously unknown disease modifying genes that predispose individuals to develop IS? Can novel genetic analyses elaborate genes and gene polymorphisms that favor ACTH responsiveness? Do these polymorphisms suggest strategies to improve ACTH responsiveness?
Osteoporosis pseudoglioma (OPPG) syndrome is a rare autosomal recessive condition of childhood osteoporosis and congenital blindness for which new treatments are needed. We have found that body fat is increased in OPPG and muscle mass is reduced. We hypothesize that growth hormone therapy will improve muscle mass and bone strength in OPPG.
Infantile spasms comprise a difficult to treat type of epilepsy in young children. Hormonal treatment, i.e. Prednisolone and ACTH are considered the treatment of choice. There is no consensus on the dosage of Prednisolone required for the treatment of infantile spasms. Recent data has shown that a high dose (4 mg/kg/day) may be more efficacious than the usual dose (2 mg/kg/day). However, there are no randomized controlled trials comparing these doses. A higher steroid dose may also be associated with more side effects. Therefore, this study was planned to compare the efficacy and tolerability of the high dose versus the usual dose in children with infantile spasms, in a randomized open-label trial design
Infantile spasms comprise an infantile epileptic encephalopathy characterized by hypsarrhythmia on EEG, and frequent neurodevelopmental regression. Unfortunately the treatment of this disorder remains difficult. The first-line options which include hormonal therapy, i.e., adrenocorticotropic hormone (ACTH) or oral corticosteroids, and vigabatrin are effective in 60-70% of the patients. Hormonal therapy is considered the best available treatment. Vigabatrin being expensive and of limited availability is not a feasible option for most patients in our setting. Also, these are however associated with significant side effects, and high relapse rates. Newer drugs such as topiramate, zonisamide, and levetiracetam have also been evaluated; however these drugs are less effective than ACTH. The ketogenic diet (KD) is a high fat, low carbohydrate diet. It has been used for treatment of intractable childhood epilepsy. The KD has also been shown to be effective for intractable infantile spasms; often after ACTH and vigabatrin have failed. The modified Atkins diet is a non-pharmacologic therapy for intractable childhood epilepsy that was designed to be a less restrictive alternative to the traditional ketogenic diet. This diet is started on an outpatient basis without a fast, allows unlimited protein and fat, and does not restrict calories or fluids. Preliminary data have shown efficacy in refractory infantile spasms. This diet is also ideal for resource-constraint settings with paucity of trained dieticians. Hence this study has been planned to evaluate the efficacy and tolerability of the modified Atkins diet in children with infantile spasms refractory to hormonal treatment in a randomized controlled trial.
The primary objective of the study is to evaluate vigabatrin pharmacokinetics (PK) in neonates receiving vigabatrin for infantile spasms (IS); and to determine the safety of vigabatrin.
West syndrome (WS) is a specific type of epilepsy (or seizure disorder) that has three features: infantile spasms (type of seizure), loss of milestones, and a specific pattern on electroencephalogram (EEG or brain wave test) called hypsarhythmia. The purpose of this study is to detect pre-hypsarhythmia in infants at high-risk for WS and determine whether treatment with ACTH will prevent WS.
This was a pilot study of 10 patients with Osteoporosis-pseudoglioma syndrome (OPPG) from the Old Order Mennonite community and 16 controls, who did not have OPPG. Five of the 10 OPPG patient elected to participate in the Lithium trial and 5 participated only in baseline data (labs, pQCT). The 5 with OPPG who were given lithium for 6 months had both dual energy xray absorptiometry (DXA), peripheral quantitative computerized tomography (pQCT) and lab assessment at baseline and 6 months. Studies in the mouse model of OPPG showed that lithium normalized their bone strength. Controls (n=16) were recruited from the Old Order Mennonite community, to minimize the effects of environmental and lifestyle factors. The controls were not be given lithium. The age range of participants was 4-64 years.
The purpose of this study is to create a patient registry to collect and analyze information on subjects treated with Sabril and the prescribers of Sabril.