Orphan Disease Center CDKL5 Deficiency Disorder International Patient Registry
试验速览
- 阶段
- 不适用
- 状态
- 暂停
- 入组人数
- 500
- 试验地点
- 2
- 主要终点
- Caregiver reported longitudinal assessments to quantify seizure frequency over time.
研究概览
简要总结
Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder, there is a limited understanding of overall disease natural history and meaningful outcome measures. An international patient registry aimed at collecting both patient/caregiver and clinician-entered demographic, patient-reported outcome (PRO) and treatment data would benefit both the scientific and patient communities. This CDD registry will follow up to 500 patients diagnosed with CDD over several years through both the patients/caregivers and their clinicians. Initial data will be collected upon enrollment in the registry, followed by the collection of additional CDD-specific data on a bi-annual/ annual basis. No procedures will be performed as part of this registry. Clinician-entered data will be collected following standard of care visits conducted as part of patients' ongoing clinical care. Ultimately, the goal is to create a contact registry to allow patients/families to be alerted about relevant clinical trials and to collect valuable information that is accessible to the patient and scientific communities, thereby aiding and encouraging research in CDD.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Person of any age, living or deceased;
- •Be a patient or the legal guardian (parent or caregiver) of a patient with a diagnosis of CDD (Diagnoses must be confirmed by a clinician or genetic test);
- •Have the ability to understand and complete an informed consent process where applicable per local regulations or have a legal guardian to provide consent on the patient's behalf if the patient is under the legal age, per local regulations, or otherwise unable to provide consent.
排除标准
- •Patient with a diagnosis of CDD who is under the legal age, per local regulations, enrolling without a legal guardian;
- •Legal guardian of a patient who is 1) over the legal age, per local regulations, and 2) is able to read and provide consent and enter data. (We require that patients over the legal age who are capable of reading and understanding and informed consent provide data directly.)
结局指标
主要结局
Caregiver reported longitudinal assessments to quantify seizure frequency over time.
时间窗: 1 year
Measured by the mean number of seizures reported at 1 week intervals over a 1 year period.
Caregiver reported assessment of GI disturbances in patients over time and across age groups.
时间窗: up to 5 years
Measured by rating of gastroesophageal reflux, dysphagia, constipation, bowel incontinence, bloating and distension at 1 year intervals over a period of 5 years.
Caregiver reported longitudinal assessment of supplement use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescription medications.
时间窗: up to 5 years
Measured by percent of patients using clinician prescribed or over the counter (OTC) supplements.
Caregiver reported longitudinal assessment of diet use for the treatment of CDKL5 Deficiency Disorder (CDD) as an adjunct to prescribed medications.
时间窗: up to 5 years
Measured by percent of subjects using clinician prescribed or self-selected diets e.g Ketogenic diet.
Frequency of different mutation types and genotype-phenotype correlations in CDKL5 Deficiency Disorder (CDD).
时间窗: 1 year
Measured by data obtained from genetic reports of enrolled patients.
Caregiver reported longitudinal assessment of sleep quality in patients over time.
时间窗: up to 5 years
Measured by mean rating of sleep disruptions indicated by collective score of night terrors and excessive daytime somnolence at 1 year intervals over a period of 5 years.
次要结局
- Medication use in patients by age group.(1 year)
- Caregiver reported time to attainment of developmental milestones.(up to 5 years)
- Frequency of hospitalization in CDKL5 Deficiency Disorder (CDD) patients.(up to 5 years)
- Frequency of respiratory infections in CDKL5 Deficiency Disorder (CDD) patients.(up to 5 years)