Rhizomelic Chondrodysplasia Punctata

Alfred I. DuPont Hospital for Children

RCDP Natural History Study

A Prospective Natural History Study of Patients With Rhizomelic Chondrodysplasia Punctata (RCDP)

History collection will be obtained from parents/caretakers and medical records which will be provided or subsequently obtained in a HIPAA compliant manner.

Temperature will be recorded using standard clinical methodology and reported in degrees Celsius.

Respiratory rate will be determined by counting number of breaths per minute

Heart rate will be reported as beats per minute

Systolic and diastolic pressure will be reported in mmHG

Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

The standardized FLACC (Faces, Legs, Activity, Consolability) questionnaire will be performed and the score reported.

Height (Length) will be reported in centimetres

Head Circumference will be reported in cm

Chest Circumference will be reported in cm

Abdominal Circumference will be reported in cm

Frequency and severity of patient exhibited pain symptoms will be evaluated with two parent-completed questionnaires, The Non-Communicating Children's Pain Checklist- Revised (NCCPC-R) and the Pediatric Pain Scale (PPS)19 (Appendix G). The NCCPC-R is a 7 domain questionnaire that is validated for assessment of pain in children aged 3-18 years who have cognitive and communication impairments. The PPS has 20 domains with a rating scale for each which is also designed to assess symptoms of pain in individuals with communication impairment. Both questionnaires will be completed during the study visits 2 hours after the end of the first morning feed. In addition, the NCCPC-R will be completed by the family 3 months after each visit at the same time interval after the first morning feed.

Musculoskeletal evaluations will be done together by a physiatrist and physical therapy. These assessments will include: assessments of strength, endurance, functional movement and control of extremities, head/neck and trunk. Assessment of muscle tone and passive and active joint range of motion will be made both qualitative and quantitatively for each major joint. Assessment of cognitive engagement will also be made. To assess the motor function and its changes over time, we propose to use Gross Motor Function Measures (GMFM-88), which is a freely available tool validated to evaluate motor skills in cerebral palsy and Down syndrome.

Patients will be placed in a supine position and electrodes will be placed over the hypothenar eminence, 5th digit and dorsal hand. Stimulations will be done at the wrist and above and below the elbow. These electrodes will be connected to the Natus UltraPro S100 machine. This unit will measure nerve conduction for motor and sensory components. The evaluation will assess nerve latencies, compound motor unit and sensory nerve action potential amplitudes and nerve conduction velocities. These values will be compared to age adjusted normal values for the ulnar nerve.

A combination of Impulse oscillometry system (IOS), Pneumotachography (PNT) and Respiratory Inductance Plethysmography (RIP) will be used to derive pulmonary indices comparable to spirometry.

Assessments of brain electrical and seizure activity will take place through electroencephalograms (EEGs) at each study visit. Each EEG will last 4 hours and will be scheduled to optimally include both awake and sleep phases. Using the 10-20 International System, the patient's head will be measured and marked for proper electrode placement. Heart rate and rhythm are monitored throughout the EEG by placement of two electrocardiogram electrodes. Electrical activity is then recorded along with a video feed using the Nicolet NicOne acquisition and Xltek brain monitor machines.

The DEXA scans will be performed in the Medical Imaging Department of Nemours/A.I. duPont Hospital for Children on a Hologic Discovery A QDR bone densitometer (Hologic, Inc., Bedford, MA). Subjects will remove all clothing with metal components prior to DEXA scan to eliminate any possible imaging artifacts; a hospital gown will be provided to the subjects. Standard positioning techniques will be used to acquire the scans. Body sites measured will include the whole body, lumbar spine, and lateral distal femurs of both legs. The following variables will be collected from each scan: bone mineral density (BMD), bone mineral content (BMC), and bone area.

A 100 ul aliquot of the separated serum will be stored at -80 °C and subsequently shipped to Med-Life Discoveries by priority overnight shipment in dry ice. Analyses will include levels of phosphoethanolamines, vinylacylglycerol (VAG), alkylacylglycerol (AAG) and results reported as quantitative concentrations for each metabolite.

Serum will be processed locally for complete blood count (CBC) and standard comprehensive metabolic profile with phosphorus (CMP with PO4).

To assess level of dysfunction in swallowing, a parent report measure, the Pediatric Assessment Scale for Severe Feeding Problems, designed to assess progress in the development of oral eating skills for children who need prolonged tube feeding will be used. The total score will be used as a quantifiable measure. This questionnaire will be completed during each study visit as well as at home 3 months after each visit. This 13 question interview provides a total score which indicates the level of GI symptom burden.

MED-LIFE DISCOVERIES LP

Dexamethasone 0.6 mg/kg IV (max 15 mg) before departure from the ED.

The control group received a similar looking placebo (NaCl 0,9% IV) with the same volume.

Migraine

The intervention of interest was the administration of dexamethasone 0.6 mg/kg IV (max 15 mg) before departure from the ED. The control group received a similar looking placebo (NaCl 0,9% IV) with the same volume.

Dexamethasone group

Placebo group

CHU Sainte Justine

RCT of IV Dexamethasone to Prevent Relapse in the Treatment of Migraine in a Paediatric ED

Randomised Controlled Trial of Intravenous Dexamethasone to Prevent Relapse in the Treatment of Migraine in a Pediatric Emergency Department

by questionnaire (heartburns, constipation, personality changes such as irritability, and sleeping problem ad 7 days

Geneviève Tourigny-Ruel

Paediatric Emergency Physician

St. Justine's Hospital

One cord blood unit will be thawed on day -14 before transplantation and selected using the CliniMACS for primitive cells that express CD133. These cells will be expanded ex vivo for a total of 14 days, using a two-stage procedure. On Day 0 the expanded cells will be harvested, washed three times with CliniMACS buffer (Miltenyi) plus 1% HSA per standard laboratory and clinical practice and the expanded cell product will be infused to a patient who has been prepared with a standard, myeloablative preparative regimen. A second, unexpanded, cord blood product will be infused on Day +1 for safety.

Patients with a hematologic malignancy who are candidates for myeloablative allogeneic BMT but lack an available matched sibling or unrelated marrow donor are eligible for this study if they have two suitably matched cord blood products with an adequate (1 x 10e7 TNC/kg IBW) but suboptimal (<5 x 10e7 TNC/kg IBW) cell dose.
One cord blood unit is expanded beginning 14 days before graft infusion (6 or 7 days before the start of the preparative regimen). Patients receive a standard myeloablative preparative regimen. The expanded cord blood unit is infused on day 0 and the unmanipulated cord blood unit is expanded on day 1.

Single Arm

Sex: Female, Male

Region of Enrollment

Ex vivo expansion of cord blood: Day 0: the expanded cell product will be infused to patient; Day +1: A second, unexpanded, cord blood product will be infused

Receive Two Cord Blood Units

Number of Participants With Toxicities Related to Infusion of Expanded Cord Blood Products

Number of participants who reached 3 consecutive days with ANC > 500

Neutrophil Engraftment Within 21 Days

Number of participants who died without relapse in less than 100 days.

Non-relapse Mortality

Patients with a hematologic malignancy who are candidates for myeloablative allogeneic BMT but lack an available matched sibling or unrelated marrow donor are eligible for this study if they have two suitably matched cord blood products with an adequate (1 x 10e7 TNC/kg IBW) but suboptimal (<5 x 10e7 TNC/kg IBW) cell dose. Eligible diagnoses include AML, MDS, ALL after failure of at least one regimen, mixed lineage leukemia, CML beyond first chronic phase, and lymphoma ineligible for autologous transplantation.

Overall Study

Allen Chen, MD,PhD,MHS

Acute Myeloid Leukemia

Leukemia, Lymphoblastic, Acute

Leukemia, Bilineage, Acute

Leukemia, Myeloid, Chronic

Day 0: the expanded cell product will be infused to patient; Day +1: A second, unexpanded, cord blood product will be infused

cataract/seizures

RCDP Natural History Study

RCT of IV Dexamethasone to Prevent Relapse in the Treatment of Migraine in a Paediatric ED

Transplantation of Umbilical Cord Blood Following Chemotherapy for Blood Cancers

Sirolimus Therapy for Idiopathic and Lupus Membranous Nephropathy

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